Servi J.C. Stevens
A5061133730- Viral-associated cancers and disorders
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Polyomavirus and related diseases
- Parvovirus B19 Infection Studies
- Lymphoma Diagnosis and Treatment
- Cytomegalovirus and herpesvirus research
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Head and Neck Cancer Studies
- Chromatin Remodeling and Cancer
- Transplantation: Methods and Outcomes
- Autism Spectrum Disorder Research
- RNA and protein synthesis mechanisms
- Genetic Syndromes and Imprinting
- Eosinophilic Disorders and Syndromes
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Congenital gastrointestinal and neural anomalies
- Histiocytic Disorders and Treatments
- Neurogenetic and Muscular Disorders Research
- Immunodeficiency and Autoimmune Disorders
- Connective tissue disorders research
Maastricht University Medical Centre
2012-2024
Maastricht University
2013-2023
Zero to Three
2019
University Medical Center
2009-2016
Amsterdam UMC Location Vrije Universiteit Amsterdam
2003-2013
Rumah Sakit Umum Pusat Nasional Dr. Cipto Mangunkusumo
2013
University of Indonesia
2013
The Netherlands Cancer Institute
2013
Universitas Gadjah Mada
2010
Vrije Universiteit Amsterdam
1999-2009
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as first-tier test offered to all pregnant women. This started April 1, 2017 the TRIDENT-2 study, licensed by Dutch Ministry of Health. In first year, NIPT was performed in 73,239 pregnancies (42% pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. number trisomies 21 (239, 0.33%), 18 (49, 0.07%), 13 (55, 0.08%) found this is comparable earlier studies,...
Copy-number variation is a common source of genomic and an important genetic cause disease. Microarray-based analysis copy-number variants (CNVs) has become first-tier diagnostic test for patients with neurodevelopmental disorders, yield 10-20%. However, most other the role CNVs less clear studies are generally limited to study single-nucleotide (SNVs) small variants. With introduction exome genome sequencing, it now possible detect both SNVs using exome- or genome-wide approach single...
Our aim was to compare the accuracy of family- or disease-specific targeted haplotyping and direct mutation-detection strategies with genome-wide mapping parental origin each chromosome, karyomapping, by single-nucleotide polymorphism genotyping parents, a close relative known disease status, embryo cell(s) used for preimplantation genetic diagnosis single-gene defects in single cell small numbers cells biopsied from human embryos following vitro fertilization.Genomic DNA whole-genome...
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
The purpose of this study was to explore the diagnostic yield and clinical utility trio-based rapid whole exome sequencing (rWES) in pregnancies fetuses with a wide range congenital anomalies detected by ultrasound imaging.In observational study, we analyzed first 54 cases referred our laboratory for prenatal rWES support decision making, after sonographic detection fetal anomalies. most common identified were skeletal dysplasia (n = 20), multiple major 17) intracerebral structural 7).A...
In the TRIDENT-2 study, all pregnant women in Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or solely for common trisomies. Previous data showed that GW-NIPT can reliably detect trisomies general obstetric population and this test also other chromosomal abnormalities (additional findings). However, evidence regarding clinical impact additional findings is lacking. Therefore, we present follow-up results study to...
Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic test than current standard of care (SOC) by assessing the technical and clinical validity with neurodevelopmental disorders (NDD). performed both exome in 150 consecutive NDD patient-parent trios. The primary outcome was yield, calculated from disease-causing variants affecting exonic sequence known genes. (30%, n =...
Noninvasive prenatal testing (NIPT) for fetal aneuploidy screening using cell-free DNA derived from maternal plasma can incidentally raise suspicion cancer. Diagnostic routing after malignancy suspicious-NIPT faces many challenges. Here, we detail cases, and describe the clinical characteristics, chromosomal aberrations, diagnostic of patients with a confirmed malignancy. Clinical lessons be learned our experience.Patients NIPT results indicative referred tumor between April 2017 2020 were...
Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence these and allocation (ab)normal cells in embryonic placental lineages during intrauterine development remain elusive. In this study, we analyzed 1,745 spontaneous pregnancy losses found that roughly half (50.4%) products conception (POCs) were karyotypically abnormal, with maternal paternal age independently contributing to increased genomic aberration rate. We applied genome haplarithmisis a subset...
ABSTRACT Epstein-Barr virus (EBV) DNA load monitoring in peripheral blood has been shown to be a useful tool for the diagnosis of aberrant EBV infections. In present study we compared relative diagnostic values unfractionated whole and simultaneously obtained serum or plasma samples from Burkitt's lymphoma (BL) patients, transplant recipients, human immunodeficiency (HIV)-infected individuals, infectious mononucleosis (IM) patients by quantitative competitive PCR (Q-PCR). The BL was mainly...
Rituximab, a humanized anti-CD20 monoclonal antibody, is promising new tool for the treatment of posttransplant lymphoproliferative disease (PTLD), especially patients transplanted with rejection prone transplants vital organs, such as after lung transplantation. Thus far, no major complications have been described. We treated three transplant recipients Rituximab because PTLD.Patients were four weekly doses 375 mg/m2 Rituximab. Epstein-Barr virus (EBV) DNA was monitored...
Nasopharyngeal carcinoma (NPC) is the most prevalent ENT-tumour in Indonesia. We investigated primary diagnostic value of Epstein-Barr virus (EBV) DNA load and mRNA detection noninvasive nasopharyngeal (NP) brushings, obtained prospectively from consecutive Indonesian ENT-patients with suspected NPC (N=106) controls. A subsequent routine NP biopsy was taken for pathological examination EBER-RISH, yielding 85 confirmed 21 non-NPC tumour patients. EBV human were quantified by real-time PCR....
BACKGROUND.: Vaccination against Epstein-Barr virus (EBV), inducing an antibody response to the envelope glycoprotein gp350, might protect EBV-negative children with chronic kidney disease from lymphoproliferative after transplantation. METHODS.: A phase I trial recruited two successive cohorts given three injections of 12.5 microg (n=6) and 25 (n=10) recombinant gp350/alhydrogel vaccine over 6 8 weeks. RESULTS.: One in each cohort acquired wild EBV before week 28 evaluation. Both doses were...
Abstract De novo mutations in specific mTOR pathway genes cause brain overgrowth the context of intellectual disability (ID). By analyzing 101 mMTOR-related a large ID patient cohort and two independent population cohorts, we show that these modulate growth health disease. We report activator gene RHEB as an is associated with megalencephaly when mutated. Functional testing mutant vertebrate animal models indicates hyperactivation concomitant increase cell head size, aberrant neuronal...
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, facial dysmorphism. Here, we present a cohort individuals with clinical features distinct from FLHS truncating (mostly de novo) SRCAP either proximal (n = 28) or distal 5) to locus. Detailed characterization identified shared characteristics: developmental delay without...
Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) are the most frequent, recurrent monogenic of cerebral palsy (CP). We investigated range clinical phenotypes owing to disruptions determine association between NEDSDV CP.Genetic information from 404 individuals collectively 392 pathogenic were ascertained for study. From these, detailed 52 previously unpublished collected combined 68 published...
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these preimplantation testing (PGT) nuclear or mitochondrial from single few-cells biopsied vitro fertilised (IVF) embryos is challenging. PGT aims select IVF without abnormalities. Although genotyping-by-sequencing (GBS)-based haplotyping methods enabled for monogenic disorders (PGT-M), structural rearrangements...
ABSTRACT A competitive quantitative PCR (Q-PCR) assay combined with simple silica-based DNA extraction was developed for monitoring of Epstein-Barr virus (EBV) load in unfractionated peripheral blood. The Q-PCR is based on coamplification a highly conserved 213-bp region the EBNA-1 open reading frame an internal standard (IS), added known concentration. IS has same amplicon length and base composition as wild-type (WT) but differs 23 internally randomized bases. Competitive yields two...
Nasopharyngeal carcinoma (NPC) is consistently associated with Epstein-Barr virus (EBV) and highly prevalent in Indonesia. EBV-DNA load can be used for early diagnosis may have prognostic value. In this study, was evaluated minimal invasive nasopharyngeal (NP) brushings whole blood initial therapy assessment against the standard-of-care by biopsy EBV-RISH standard EBV-IgA serology.NP samples were collected from 289 consecutive ENT patients suspected of NPCs 53 local healthy controls....